KCD12_HUMAN
ID KCD12_HUMAN Reviewed; 325 AA.
AC Q96CX2;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=BTB/POZ domain-containing protein KCTD12;
DE AltName: Full=Pfetin;
DE AltName: Full=Predominantly fetal expressed T1 domain;
GN Name=KCTD12; Synonyms=C13orf2, KIAA1778, PFET1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Cochlea;
RX PubMed=15357420; DOI=10.1007/s10162-003-4042-x;
RA Resendes B.L., Kuo S.F., Robertson N.G., Giersch A.B., Honrubia D.,
RA Ohara O., Adams J.C., Morton C.C.;
RT "Isolation from cochlea of a novel human intronless gene with predominant
RT fetal expression.";
RL J. Assoc. Res. Otolaryngol. 5:185-202(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-185, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [7]
RP INTERACTION WITH GABRB1 AND GABRB2, AND TETRAMERIZATION.
RX PubMed=20400944; DOI=10.1038/nature08964;
RA Schwenk J., Metz M., Zolles G., Turecek R., Fritzius T., Bildl W.,
RA Tarusawa E., Kulik A., Unger A., Ivankova K., Seddik R., Tiao J.Y.,
RA Rajalu M., Trojanova J., Rohde V., Gassmann M., Schulte U., Fakler B.,
RA Bettler B.;
RT "Native GABA(B) receptors are heteromultimers with a family of auxiliary
RT subunits.";
RL Nature 465:231-235(2010).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-151, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Auxiliary subunit of GABA-B receptors that determine the
CC pharmacology and kinetics of the receptor response. Increases agonist
CC potency and markedly alter the G-protein signaling of the receptors by
CC accelerating onset and promoting desensitization (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts as a tetramer with GABRB1 and GABRB2.
CC {ECO:0000269|PubMed:20400944}.
CC -!- INTERACTION:
CC Q96CX2; Q96CX2: KCTD12; NbExp=2; IntAct=EBI-358358, EBI-358358;
CC Q96CX2; Q3KQV3: ZNF792; NbExp=3; IntAct=EBI-358358, EBI-10240849;
CC -!- SUBCELLULAR LOCATION: Presynaptic cell membrane. Postsynaptic cell
CC membrane {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Present in a variety of fetal organs, with highest
CC expression levels in the cochlea and brain and, in stark contrast, is
CC detected only at extremely low levels in adult organs, such as brain
CC and lung. {ECO:0000269|PubMed:15357420}.
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DR EMBL; AF359381; AAQ15187.1; -; mRNA.
DR EMBL; BC013764; AAH13764.1; -; mRNA.
DR CCDS; CCDS9455.1; -.
DR RefSeq; NP_612453.1; NM_138444.3.
DR PDB; 6M8S; X-ray; 3.71 A; A/B/M/O/P=200-325.
DR PDB; 6QZL; X-ray; 1.98 A; A/B/C/D/E=202-325.
DR PDBsum; 6M8S; -.
DR PDBsum; 6QZL; -.
DR AlphaFoldDB; Q96CX2; -.
DR SMR; Q96CX2; -.
DR BioGRID; 125419; 117.
DR CORUM; Q96CX2; -.
DR IntAct; Q96CX2; 18.
DR MINT; Q96CX2; -.
DR STRING; 9606.ENSP00000366694; -.
DR BindingDB; Q96CX2; -.
DR ChEMBL; CHEMBL4523424; -.
DR GuidetoPHARMACOLOGY; 1918; -.
DR GlyGen; Q96CX2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96CX2; -.
DR MetOSite; Q96CX2; -.
DR PhosphoSitePlus; Q96CX2; -.
DR BioMuta; KCTD12; -.
DR DMDM; 50401124; -.
DR REPRODUCTION-2DPAGE; IPI00060715; -.
DR EPD; Q96CX2; -.
DR jPOST; Q96CX2; -.
DR MassIVE; Q96CX2; -.
DR MaxQB; Q96CX2; -.
DR PaxDb; Q96CX2; -.
DR PeptideAtlas; Q96CX2; -.
DR PRIDE; Q96CX2; -.
DR ProteomicsDB; 76237; -.
DR Antibodypedia; 42369; 147 antibodies from 25 providers.
DR DNASU; 115207; -.
DR Ensembl; ENST00000377474.4; ENSP00000366694.2; ENSG00000178695.6.
DR GeneID; 115207; -.
DR KEGG; hsa:115207; -.
DR MANE-Select; ENST00000377474.4; ENSP00000366694.2; NM_138444.4; NP_612453.1.
DR UCSC; uc010aeu.2; human.
DR CTD; 115207; -.
DR DisGeNET; 115207; -.
DR GeneCards; KCTD12; -.
DR HGNC; HGNC:14678; KCTD12.
DR HPA; ENSG00000178695; Low tissue specificity.
DR MIM; 610521; gene.
DR neXtProt; NX_Q96CX2; -.
DR OpenTargets; ENSG00000178695; -.
DR PharmGKB; PA25512; -.
DR VEuPathDB; HostDB:ENSG00000178695; -.
DR eggNOG; KOG2723; Eukaryota.
DR GeneTree; ENSGT00940000161074; -.
DR HOGENOM; CLU_057051_0_1_1; -.
DR InParanoid; Q96CX2; -.
DR OMA; DHGMSDR; -.
DR OrthoDB; 1579292at2759; -.
DR PhylomeDB; Q96CX2; -.
DR TreeFam; TF315332; -.
DR PathwayCommons; Q96CX2; -.
DR SignaLink; Q96CX2; -.
DR BioGRID-ORCS; 115207; 10 hits in 1071 CRISPR screens.
DR ChiTaRS; KCTD12; human.
DR GeneWiki; KCTD12; -.
DR GenomeRNAi; 115207; -.
DR Pharos; Q96CX2; Tchem.
DR PRO; PR:Q96CX2; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q96CX2; protein.
DR Bgee; ENSG00000178695; Expressed in trigeminal ganglion and 213 other tissues.
DR ExpressionAtlas; Q96CX2; baseline and differential.
DR Genevisible; Q96CX2; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0042995; C:cell projection; IEA:UniProtKB-KW.
DR GO; GO:0045211; C:postsynaptic membrane; IBA:GO_Central.
DR GO; GO:0042734; C:presynaptic membrane; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0051260; P:protein homooligomerization; IEA:InterPro.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR InterPro; IPR003131; T1-type_BTB.
DR Pfam; PF02214; BTB_2; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Cell membrane; Cell projection; Membrane;
KW Phosphoprotein; Postsynaptic cell membrane; Reference proteome; Synapse.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..325
FT /note="BTB/POZ domain-containing protein KCTD12"
FT /id="PRO_0000191295"
FT REGION 1..28
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 129..202
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 169..183
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 119
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q6WVG3"
FT MOD_RES 151
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 171
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6WVG3"
FT MOD_RES 185
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 196
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q6WVG3"
FT MOD_RES 200
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6WVG3"
FT STRAND 208..219
FT /evidence="ECO:0007829|PDB:6QZL"
FT STRAND 236..241
FT /evidence="ECO:0007829|PDB:6QZL"
FT HELIX 242..249
FT /evidence="ECO:0007829|PDB:6QZL"
FT HELIX 250..252
FT /evidence="ECO:0007829|PDB:6QZL"
FT STRAND 265..273
FT /evidence="ECO:0007829|PDB:6QZL"
FT HELIX 277..286
FT /evidence="ECO:0007829|PDB:6QZL"
FT STRAND 290..301
FT /evidence="ECO:0007829|PDB:6QZL"
FT STRAND 313..324
FT /evidence="ECO:0007829|PDB:6QZL"
SQ SEQUENCE 325 AA; 35701 MW; 6254CC18E27275A9 CRC64;
MALADSTRGL PNGGGGGGGS GSSSSSAEPP LFPDIVELNV GGQVYVTRRC TVVSVPDSLL
WRMFTQQQPQ ELARDSKGRF FLDRDGFLFR YILDYLRDLQ LVLPDYFPER SRLQREAEYF
ELPELVRRLG APQQPGPGPP PSRRGVHKEG SLGDELLPLG YSEPEQQEGA SAGAPSPTLE
LASRSPSGGA AGPLLTPSQS LDGSRRSGYI TIGYRGSYTI GRDAQADAKF RRVARITVCG
KTSLAKEVFG DTLNESRDPD RPPERYTSRY YLKFNFLEQA FDKLSESGFH MVACSSTGTC
AFASSTDQSE DKIWTSYTEY VFCRE
